Ehlers-Danlos syndrome type VIIc

Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that affect the connective tissue. Most individuals affected with EDS have soft, stretchy skin, hypermobile joints and bruise easily. EDS type VIIc, also known as EDS, dermatosparaxis type, is known for extremely fragile skin that sags and wrinkles. Children with EDS type VIIc will also have extra folds of skin that become more noticeable as they get older. They also have hypermobile joints that may delay motor skills such as sitting, standing or walking. Some affected individuals have short stature and some may have a slightly blue color to the whites of their eyes. Infants typically have a soft, outward bulging of the abdominal lining around the belly button, called a hernia. Some children have some characteristic facial features that include a small chin and puffy eyelids. Intellect is not affected by EDS type VIIc. Life expectancy is usually normal. There is no cure for EDS type VIIC but medical care and surveillance can help improve some symptoms and overall condition of life. EDS type VIIc is caused by pathogenic variants in the ADAMTS2 gene.

EDS type VIIc is inherited in an autosomal recessive manner. This type of inheritance requires the presence of two copies of a pathogenic variant for a person to have the genetic disease. Both parents must be carriers of a pathogenic variant in the gene in order to be at risk to have an affected child. The child must inherit a pathogenic variant from each carrier parent in order to be affected. There is a 1 in 4 chance that a baby will inherit two mutated copies of the gene and be affected when both parents are carriers.

There are generally no signs or symptoms associated with being a carrier for EDS type VIIc. However, the risk to have a child affected with EDS type VIIc is increased. Testing of reproductive partners is recommended for carriers of EDS type VIIc.

It is estimated that combining all types of Ehlers-Danlos would have a frequency of 1 in 5,000 newborns. EDS type VIIc is very rare; it is unknown exactly how often it occurs.

The following websites may be informative: Genetic Home Reference: Ehlers-Danlos syndrome (http://ghr.nlm.nih.gov/)

OMIM: [225410: EHLERS-DANLOS SYNDROME, TYPE VII] (http://www.ncbi.nlm.nih.gov/omim)

• Full gene sequencing